MGP Database

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MGP005551

UniProt Annotations

Entry Information
Gene Nameinositol polyphosphate-5-phosphatase, 72 kDa
Protein EntryINP5E_HUMAN
UniProt IDQ9NRR6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NRR6-1; Sequence=Displayed; Name=2; IsoId=Q9NRR6-2; Sequence=VSP_009799;
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. {ECO:0000269|PubMed:10764818}.
DiseaseJoubert syndrome 1 (JBTS1) [MIM:213300]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:19668216}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. {ECO:0000269|PubMed:19668215}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActive in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB. {ECO:0000269|PubMed:10764818}.
FunctionConverts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5- bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates. {ECO:0000269|PubMed:10764818}.
Sequence CautionSequence=AAB03215.1; Type=Miscellaneous discrepancy; Note=Several sequencing problems.; Evidence={ECO:0000305};
SimilarityBelongs to the inositol 1,4,5-trisphosphate 5- phosphatase type IV family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19668215, ECO:0000269|PubMed:19668216, ECO:0000269|PubMed:24166846}. Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:Q9JII1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JII1}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JII1}. Cell membrane {ECO:0000250|UniProtKB:Q9WVR1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9WVR1}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9WVR1}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q9WVR1}. Cytoplasm {ECO:0000250|UniProtKB:Q9WVR1}. Note=Peripheral membrane protein associated with Golgi stacks. {ECO:0000250|UniProtKB:Q9JII1}.
SubunitInteracts (when prenylated) with PDE6D; this is important for normal location in cilia. {ECO:0000269|PubMed:24166846}.
Tissue SpecificityDetected in brain, heart, pancreas, testis and spleen. {ECO:0000269|PubMed:10764818}.
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